Hb Gerland [alpha 55(E4)Val-->Ala]: a mutation found on the alpha1-globin gene.
The Hb Gerland [alpha 55(E4)Val-->Ala] mutation has been described in the alpha2-globin gene. We report here the same mutation in the paralogous alpha1-globin gene. This variant was found in a healthy 18-month-old boy of Chinese origin. Abnormal hemoglobin (Hb) fractions were visible on isoelectric focusing (IEF) and cation exchange high performance liquid chromatography (HPLC), with elution patterns differing from one system to another. Direct sequencing of the alpha-globin genes revealed a GTT>GCT (Val-->Ala) transversion at codon 55 of the alpha1-globin gene. We propose to name the variant encoded by the alpha1-globin gene Hb Gerland [A1], and the variant that is encoded by the alpha2-globin gene Hb Gerland [A2].
Moradkhani
Kamran
K
INSERM, Creteil, France. kamran.moradkhani@inserm.fr
Riou
Jean
J
Francina
Alain
A
Wajcman
Henri
H
Prehu
Claude
C
D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D055542:alpha-Globins / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C473010:hemoglobin Gerland